Beyond Dystonia-Parkinsonism: Chorea and Ataxia with ATP1A3 Mutations.

ABSTRACT: Mutations in the ATP1A3 gene (the α-3 subunit of the Na⁺/K⁺ ATPase) are associated with rapid-onset dystonia-parkinsonism; alternating hemiplegia of childhood; and cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS syndrome). The authors report 3 cases with pleiotropic movement disorders, including a novel mutation in a patient who presented with ataxia and dysphagia. Case 1 had a history of attention deficit hyperactivity disorder and developed dysphagia, chorea, and limb dystonia after a febrile illness at age 12 years. Case 2 presented with limb dystonia at age 26 years and dysarthia and dysphagia after a febrile illness. Case 3 had a history of learning disability and developed progressive ataxia with cerebellar atrophy a

SUBMITTER: de Gusmao CM 

PROVIDER: S-EPMC6178757 | biostudies-literature | 2016 Jul-Aug

REPOSITORIES: biostudies-literature